Carney-Stratakis Syndrome Caused by a Novel SDHD Mutation

ABSTRACT Objective: To raise awareness of the clinical presentation and genetic features of Carney-Stratakis syndrome (CSS) and demonstrate the importance of multimodality imaging in such patients. Method: A case report of an unusual case of CSS due to a novel succinate dehydrogenase D (SDHD) mutation. Results: A 39-year-old Caucasian male who presented with abdominal discomfort and reflux symptoms was found to have a gastrointestinal stromal tumor (GIST) arising from the stomach. A contrast computed tomography (CT) scan of the chest, abdomen, and pelvis subsequently revealed a right carotid body paraganglioma (PGL), a left cervical (C2) PGL, the GIST, and a left supra-adrenal tumor. He underwent a laparoscopic left supra-adrenal PGL resection. Postoperatively, he was seen in our institution, and a 68-Ga-DOTA octreotate (DOTATATE) positron emission tomography (PET) scan demonstrated avid uptake in the bilateral carotid body tumors, the GIST, and in an extracardiac PGL between the origin of the ascending aorta and main pulmonary artery that was not previously detected on the CT scan. He was diagnosed with CSS, and genetic analysis revealed a novel 3-base pair deletion starting at nucleotide position 276 (c.276_278delCTA) of the SDHD gene that resulted in the deletion of a single amino acid at position 93 (p.(Tyr93del)). He subsequently underwent resection of the right carotid body PGL. Conclusion: Diagnosis of CSS and genetic evaluation should be considered in patients who present with GISTs and PGLs. A combination of conventional imaging techniques and somatostatin receptor scintigraphy is often required for the diagnosis and management of these patients. Abbreviations: CSS Carney-Stratakis syndrome CT computed tomography DOTATATE 68-Ga-DOTA octreotate GIST gastrointestinal stromal tumor MIBG metaiodobenzylguanidine PDGFRA platelet-derived growth factor receptor-&agr; PET positron emission tomography PGL paraganglioma SDH succinate dehydrogenase